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约旦阿拉伯人中常见遗传易感性变异与乳腺癌的关联:一项病例对照研究。

The Associations of Common Genetic Susceptibility Variants with Breast Cancer in Jordanian Arabs: A Case-Control Study.

作者信息

Al-Eitan Laith N, M Rababa'h Doaa, Aman Hatem A

机构信息

Department of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.

Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.

出版信息

Asian Pac J Cancer Prev. 2020 Oct 1;21(10):3045-3054. doi: 10.31557/APJCP.2020.21.10.3045.

DOI:10.31557/APJCP.2020.21.10.3045
PMID:33112566
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7798142/
Abstract

OBJECTIVE

In Jordan, breast cancer (BC) affects a substantial proportion of Jordanian women, highlighting the need for studies to be carried out regarding the genetic component of the disease. The aim of the present study was to investigate the interaction between BC risk and prognosis and polymorphisms in genes (ATM, CASP8, FGFR2, FN1, IGF1, LSP1, MAP3K, MMP7, and RHOC) that were chosen for this study previously reported as having a role in the disease.

MATERIALS AND METHODS

Blood samples were collected from 242 BC patients and 231 disease-free volunteers recruited from the Jordanian population. DNA was extracted from blood and each sample was sent to the Australian Genome Research Facility for genotyping.

RESULTS

The rs1219648 SNP of the FGFR2 gene was the only investigated variant to show any direct association with BC in Jordanian women (p-value = 0.04). However, the CASP8rs6760993 SNP was found to be significantly associated with BC (p-value = 0.04) when using the dominant model. Other gene polymorphisms showed varying levels of association between some investigated SNPs and different BC risk and prognostic factors.

CONCLUSION

Despite reports to the contrary in other populations, most of the investigated genes and their respective SNPs did not show any significant association with BC in Jordanian women. Our results underline the need for independent BC research to be carried out in the Jordanian population to decipher the genetic basis of the disease.
.

摘要

目的

在约旦,乳腺癌影响着很大一部分约旦女性,这凸显了开展关于该疾病遗传成分研究的必要性。本研究的目的是调查乳腺癌风险与预后之间的相互作用,以及此前报道在该疾病中起作用的基因(ATM、CASP8、FGFR2、FN1、IGF1、LSP1、MAP3K、MMP7和RHOC)中的多态性。

材料与方法

从约旦人群中招募的242例乳腺癌患者和231名无病志愿者采集血样。从血液中提取DNA,每个样本被送往澳大利亚基因组研究机构进行基因分型。

结果

FGFR2基因的rs1219648单核苷酸多态性是在约旦女性中唯一显示出与乳腺癌有直接关联的研究变体(p值 = 0.04)。然而,当使用显性模型时,发现CASP8 rs6760993单核苷酸多态性与乳腺癌显著相关(p值 = 0.04)。其他基因多态性显示,一些研究的单核苷酸多态性与不同的乳腺癌风险和预后因素之间存在不同程度的关联。

结论

尽管在其他人群中有相反的报道,但在约旦女性中,大多数研究的基因及其各自的单核苷酸多态性与乳腺癌没有显示出任何显著关联。我们的结果强调了需要在约旦人群中开展独立的乳腺癌研究,以破译该疾病的遗传基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addd/7798142/3b7f2b8e0591/APJCP-21-3045-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addd/7798142/3b7f2b8e0591/APJCP-21-3045-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/addd/7798142/3b7f2b8e0591/APJCP-21-3045-g001.jpg

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BMC Cancer. 2019 Dec 30;19(1):1257. doi: 10.1186/s12885-019-6490-7.
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